Genetic variation of MMP‐2(‐735 C&gt;T) and MMP‐9(‐1562 C&gt;T) gene in risk of development of HAND and severity of HAND

Singh, HariOm; Marathe, Shruti D.; Nema, Vijay; Ghate, Manisha; Gangakhedkar, Raman

doi:10.1002/jgm.2897

Cited by 5 publications

(6 citation statements)

References 37 publications

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“…Furthermore, previous functional studies have reported a lower promoter activity as a consequence of the Sp1 binding site disruption, 51,76 predisposing to multiple diseases. 26,52,[77][78][79] In the present study, a lack of association with DN was obtained in Tunisians because the MAF distribution was comparable between the different comparison groups. Similarly, the À735C/T variant, which altered an Sp1 binding site and has previously been reported to alter MMP-2 gene transcription, 80 showed that the allelic transition C/T most likely does not influence the onset and progression of DN given the lack of allelic and genotypic association with DN.…”

Section: Discussioncontrasting

confidence: 47%

“…The C/T transition at −1306 position in the promoter region of MMP‐2 gene results in the loss of Sp1 binding site, in reference to our in silico analysis results. Furthermore, previous functional studies have reported a lower promoter activity as a consequence of the Sp1 binding site disruption, 51,76 predisposing to multiple diseases 26,52,77–79 . In the present study, a lack of association with DN was obtained in Tunisians because the MAF distribution was comparable between the different comparison groups.…”

Section: Discussioncontrasting

confidence: 39%

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Association of matrix metalloproteinase‐2 gene variants with diabetic nephropathy risk

Sarray

Lamine

Dallel

et al. 2023

The Journal of Gene Medicine

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BackgroundDiabetic nephropathy is a highly destructive microvascular complication of diabetes. Genetic predisposition is involved in the pathogenesis of diabetic nephropathy, with multiple allelic polymorphisms associated with the development and progression of the disease, thereby increasing the overall risk. To date, no study is available that shows the association of matrix metalloproteinase‐2 (MMP‐2) gene polymorphisms with diabetic nephropathy risk. Thus, we investigated the potential genetic influence of MMP‐2 promoter variants in the development of diabetic nephropathy in type 2 diabetic patients.MethodsIn total, 726 type 2 diabetic patients and 310 healthy controls were included in the study and genotyped for MMP‐2, −1306C/T, −790T/G, −1575G/T and −735C/T by real‐time PCR. The analysis of the outcomes was performed assuming three genetic models. The threshold for statistical significance was set at 0.05.ResultsThe results showed that the minor allele frequency of the −790T/G variant was significantly higher in patients with and without nephropathy compared to controls. Furthermore, the distribution analysis revealed a significant association of the −790T/G variant, in all genetic models, with increased risk of diabetic nephropathy that persisted after adjusting for key covariates. No significant associations between MMP‐2, −1306C/T, −1575G/T, −735C/T and the risk of diabetic nephropathy were detected. Haplotype analysis identified two risk haplotypes GCGC and GTAC associated with diabetic nephropathy.ConclusionsThe present study is the first to demonstrate the allelic and genotypic association of the MMP‐2‐790T/G variant and two haplotypes with an increased risk of diabetic nephropathy in a Tunisian population with type 2 diabetes.

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Section: Discussioncontrasting

confidence: 47%

Section: Discussioncontrasting

confidence: 39%

Association of matrix metalloproteinase‐2 gene variants with diabetic nephropathy risk

Sarray

Lamine

Dallel

et al. 2023

The Journal of Gene Medicine

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“…Other MMP-3 alleles ( MMP-3-1612 5A allele and MMP-3-1612 5A/5A allele) presented a lower risk of HAND [ 128 ]. A polymorphism of the MMP-2 gene (MMP-2-735 C>T) has been implicated in risk of HAND development and severity, both alone and synergistically with a MMP-9 variation ( MMP-9-1562 C>T ) [ 129 ]. A SNP of the MMP-7 gene, resulting in MMP-7-181 A or G genotypes, was not associated with HAND, even though MMP-7 is upregulated by the Tat protein [ 130 ].…”

Section: Matrix Metalloproteinase (Mmp) Genesmentioning

confidence: 99%

Risk Factors and Pathogenesis of HIV-Associated Neurocognitive Disorder: The Role of Host Genetics

Olivier

Cacabelos

Naidoo

2018

IJMS

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Neurocognitive impairments associated with human immunodeficiency virus (HIV) infection remain a considerable health issue for almost half the people living with HIV, despite progress in HIV treatment through combination antiretroviral therapy (cART). The pathogenesis and risk factors of HIV-associated neurocognitive disorder (HAND) are still incompletely understood. This is partly due to the complexity of HAND diagnostics, as phenotypes present with high variability and change over time. Our current understanding is that HIV enters the central nervous system (CNS) during infection, persisting and replicating in resident immune and supporting cells, with the subsequent host immune response and inflammation likely adding to the development of HAND. Differences in host (human) genetics determine, in part, the effectiveness of the immune response and other factors that increase the vulnerability to HAND. This review describes findings from studies investigating the role of human host genetics in the pathogenesis of HAND, including potential risk factors for developing HAND. The similarities and differences between HAND and Alzheimer’s disease are also discussed. While some specific variations in host genes regulating immune responses and neurotransmission have been associated with protection or risk of HAND development, the effects are generally small and findings poorly replicated. Nevertheless, a few specific gene variants appear to affect the risk for developing HAND and aid our understanding of HAND pathogenesis.

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“…Our study revealed no significant association of the MMP2 rs2285053 variant at position −735 (C>T) with AD risk and no effect on the age of AD onset and the degree of cognitive dysfunction monitored by the MoCA score. Regarding neurodegenerative disorders, only one study reported that individuals with the MMP2 −735CT genotype and −735T allele were at higher risk of developing HIV-associated neurocognitive disorders (HAND) [30]. As reported in other research studies, the −735C allele as a high producer was associated with MS risk in female patients [38], in patients with ischemic stroke in a Chinese population [39], and with breast cancer risk [40].…”

Section: Discussionmentioning

confidence: 85%

“…Genetic impact of MMP2 rs243866 (−1575 G>A) and rs2285053 (−735 C>T) polymorphisms on AD risk have not been analysed until now. However, one study presented a significant association of the rs2285053-T allele with susceptibility to develop HIV-associated neurocognitive disorders [30]. The first objective of the current investigation was to assess the association of MMP2 rs243866 (−1575 G>A) and rs2285053 (−735 C>T) polymorphisms with disease susceptibility in a group of Slovak patients with late-onset Alzheimer's disease by a case-control study.…”

Section: Introductionmentioning

confidence: 96%

MMP2 rs243866 and rs2285053 Polymorphisms and Alzheimer’s Disease Risk in Slovak Caucasian Population

Ocenasova

Shawkatová

Javor

et al. 2023

Life

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Alzheimer’s disease (AD) is an age-related neurodegenerative disorder characterised by progressive loss of memory. In the AD brain, matrix metalloproteinases (MMPs) are involved in the disruption of the blood-brain barrier resulting in a neuroinflammatory response. The objective of our investigation was to assess the association of MMP2 rs243866 and rs2285053 polymorphisms with susceptibility to AD, to assess the interaction of MMP2 variants with APOE ε4 risk allele, and to evaluate their influence on the age at disease onset and MoCA score. A total of 215 late-onset AD patients and 373 control subjects from Slovakia were genotyped for MMP2 rs243866 and rs2285053 polymorphisms. The MMP2 association with AD risk and clinical parameters was evaluated by logistic and linear regression analyses. No statistically significant differences in either MMP2 rs243866 and rs2285053 allele or genotype frequencies between AD patients and the control group have been observed (p > 0.05). However, the correlation with clinical findings revealed a higher age at disease onset in MMP2 rs243866 GG carriers in the dominant model as compared to other MMP2 genotype carriers (p = 0.024). Our results suggest that MMP2 rs243866 promoter polymorphism may have an impact on the age at AD onset in the patients.

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Genetic variation of MMP‐2(‐735 C>T) and MMP‐9(‐1562 C>T) gene in risk of development of HAND and severity of HAND

Cited by 5 publications

References 37 publications

Association of matrix metalloproteinase‐2 gene variants with diabetic nephropathy risk

Association of matrix metalloproteinase‐2 gene variants with diabetic nephropathy risk

Risk Factors and Pathogenesis of HIV-Associated Neurocognitive Disorder: The Role of Host Genetics

MMP2 rs243866 and rs2285053 Polymorphisms and Alzheimer’s Disease Risk in Slovak Caucasian Population

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